Primary Identifier | MGI:88190 | Organism | mouse, laboratory |
Chromosome | 6 | NCBI Gene Number | 109880 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.0.0) Enables protein kinase activity. Acts upstream of or within several processes, including hemopoiesis; negative regulation of apoptotic process; and positive regulation of cellular component organization. Located in several cellular components, including cell body; mitochondrion; and neuron projection. Is expressed in several structures, including alimentary system; brain; genitourinary system; hemolymphoid system gland; and liver and biliary system. Used to study Langerhans-cell histiocytosis; cardiofaciocutaneous syndrome; melanoma (multiple); prostate cancer; and thyroid gland papillary carcinoma. Human ortholog(s) of this gene implicated in several diseases, including Noonan syndrome 7; carcinoma (multiple); cardiofaciocutaneous syndrome (multiple); central nervous system benign neoplasm (multiple); and melanoma (multiple). Orthologous to human BRAF (B-Raf proto-oncogene, serine/threonine kinase). PHENOTYPE: Homozygous null embryos die during organogenesis, are smaller, have enlarged blood vessels, hemorrhaging, poor circulation, slow heartbeat and abnormal endothelial cell development. Mice homozygous for a targeted allele activated in neurons exhibit impaired neuronal differentiation. [provided by MGI curators] |